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MT001222

UniProt Annotations

Entry Information

Gene Name	alanyl-tRNA synthetase 2, mitochondrial
Protein Entry	SYAM_HUMAN
UniProt ID	Q5JTZ9
Species	Human

Comments

Comment type	Description
Catalytic Activity	ATP + L-alanine + tRNA(Ala) = AMP + diphosphate + L-alanyl-tRNA(Ala). {ECO:0000255\|HAMAP- Rule:MF_03133}.
Cofactor	Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence={ECO:0000255\|HAMAP-Rule:MF_03133}; Note=Binds 1 zinc ion per subunit. {ECO:0000255\|HAMAP- Rule:MF_03133};
Disease	Combined oxidative phosphorylation deficiency 8 (COXPD8) [MIM:614096]: A mitochondrial disease characterized by a lethal infantile hypertrophic cardiomyopathy, generalized muscle dysfunction and some neurologic involvement. The liver is not affected. {ECO:0000269\|PubMed:21549344}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Leukoencephalopathy, progressive, with ovarian failure (LKENP) [MIM:615889]: An autosomal recessive neurodegenerative disorder characterized by childhood- to adulthood-onset of signs of neurologic deterioration consisting of ataxia, spasticity, and cognitive decline with features of frontal lobe dysfunction. Brain MRI shows leukoencephalopathy with striking involvement of deep white matter, and cerebellar atrophy. All female patients develop premature ovarian failure. {ECO:0000269\|PubMed:24808023}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Domain	Consists of three domains; the N-terminal catalytic domain, the editing domain and the C-terminal C-Ala domain. The editing domain removes incorrectly charged amino acids, while the C-Ala domain, along with tRNA(Ala), serves as a bridge to cooperatively bring together the editing and aminoacylation centers thus stimulating deacylation of misacylated tRNAs. {ECO:0000255\|HAMAP-Rule:MF_03133}.
Function	Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala- AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain. {ECO:0000255\|HAMAP-Rule:MF_03133}.
Sequence Caution	Sequence=BAA86584.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Similarity	Belongs to the class-II aminoacyl-tRNA synthetase family. {ECO:0000255\|HAMAP-Rule:MF_03133}.
Subcellular Location	Mitochondrion {ECO:0000255\|HAMAP- Rule:MF_03133, ECO:0000269\|PubMed:21549344}.
Subunit	Monomer. {ECO:0000255\|HAMAP-Rule:MF_03133}.